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2,450 Possible Causes for Abnormal Corticomedullary Differentiation, Immunoglobulin M Decreased, Retinal Degeneration

  • Ataxia Telangiectasia

    Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com] Mari Sild & Linda Booij Molecular Psychiatry (2019) Histone Deacetylases Contribute to Excitotoxicity-Triggered Degeneration of Retinal Ganglion Cells In Vivo Annabelle Schlüter[doi.org]

  • Persistent Polyclonal B-cell Lymphocytosis

    degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset SPMD with hyaline bodies Lateral[orpha.net] […] junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset nephronophthisis Late-onset primary lymphedema Late-onset retinal[orpha.net]

    Missing: Abnormal Corticomedullary Differentiation
  • Senior-Løken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co] Mutations in nine genes are linked to retinal degeneration and mutated NPHP1 to NPHP13 genes result in nephronophthisis.[symptoma.com]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 1

    Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 3

    […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 12

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] degeneration.[doi.org]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 9

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] degeneration.[oadoi.org]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 2

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists.[oxfordmedicine.com]

    Missing: Immunoglobulin M Decreased
  • Nephronophthisis 13

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Tapeto-retinal degeneration is frequent in patients with nephronophthisis.[ncbi.nlm.nih.gov]

    Missing: Immunoglobulin M Decreased
  • Skin Cancer

    The present review is aimed at providing an overview of skin cancer with particular focus on occupational concern and giving evidence-based recommendation for effective prevention at workplace. We performed a systematic search of literature using PubMed and the Cochrane Library. Outcome of preventive strategies[…][ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation Retinal Degeneration

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